کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8681800 1579653 2018 21 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing
چکیده انگلیسی
The methodology provides a reliable strategy for routine gene diagnosis of GEFS+. This observation of a potentially pathogenic mutation of SCN2A (Nav1.2) indicates that this gene should be further evaluated in order to determine possible routes of causation of GEFS+.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Neurology and Neurosurgery - Volume 169, June 2018, Pages 86-91
نویسندگان
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